ClinVar Miner

List of variants in gene SCN1A reported as likely pathogenic by Baylor Genetics

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118

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